Mutation details:

Protein level identifier (NP_113606):

p.Ala657Thr

cDNA level identifier (NM_031418):

c.1969G>A

Genome level identifier:

g.445018G>A

Reference, alternative allele:

G, A

Genetic location hg(19)

(not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Positive functional evidence:

0;

Number of all included cases:

4 heterozygous (4 in total).

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